Publikace
- Sticklerův syndrom v České republice: fenotypová variabilita a genetická heterogenita2021 | 2. lékařská fakulta
- Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases2021 | 2. lékařská fakulta
- The key role of purine metabolism in the folate-dependent phenotype of autism spectrum disorders: An in silico analysis2020 | 2. lékařská fakulta
- Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia2020 | 2. lékařská fakulta
- Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism2016 | 2. lékařská fakulta
- Two supernumerary marker-chromosomes in a healthy woman: a case reportPublikace bez příslušnosti k fakultě
- Dva marker-chromozomy u jedné zdravé ženy - kazuistikaPublikace bez příslušnosti k fakultě
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | 2. lékařská fakulta
- Axenfeld-Rieger syndrome: more than meets the eye2023 | 2. lékařská fakulta, 1. lékařská fakulta
- Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 20212023 | 2. lékařská fakulta
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